A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5620170



Internal ID21568475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28183042..28183042hg38UCSC Ensembl
chr1:28509553..28509553hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065086
SamplesHG01114
Known GenesPTAFR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5620170
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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